Whole Genome Sequencing: Fueling Medicine's Next Revolution

I hold the firm belief that this centuries biggest advancements will be in the field of medicine. Specifically, I see the continued integration of other disciplines into the field of medicine to greatly contribute to our society in a way we can hardly imagine over the next 88 years.

It is my belief that the continued merging of various disciplines into the practice of healthcare is not limited to something such as healthcare IT - a very trendy field for investors. The principals in all of these fields can be used in harmony to directly treat diseases themselves. The cutting edge labs of today and the future labs of tomorrow might look a lot less like a typical biology lab. Note the background of the MIT researcher as an electrical engineer in the link provided. I would venture to guess that somewhere at this moment in time, a 20 year old college student who grew up hacking computers, is now hacking genes and is doing stuff in his/her moms basement that will change the world of medicine much in the way that tech companies like Apple (NASDAQ:AAPL) and Microsoft (NASDAQ:MSFT) have. He's probably ordering BioBricks off the internet and thinking up uses for things we didn't even know we had a need for yet.

There are always promising new classes of medicines and technologies in the pipeline that will go on to improve the lives of many. Its difficult to discern the difference between incremental improvements touted as revolutionary and advancements that could change how an entire landscape of our society. Often, revolutionary contributions come incrementally over time which further adds to the challenge. Sometimes it is only with the benefit of hindsight that we recognize something truly transformational.

Most people reading this article will have experienced first hand the transformation that the internet has had on so many areas of our society. Upon first use of the internet did you think it would transform our culture in every imaginable way? I thought it was an interesting advancement that would bring the death of encyclopedias and a fun way to communicate with friends. Maybe I was too young to appreciate its significance but I suspect that I wasn't alone. It took time to appreciate what it had contributed to our society. I didn't imagine all of the industries it would fuel and even create.

With whole genome sequencing, I believe we are in the middle of another major breakthrough in our society. One of the enabling technologies of many of the advancements in medicine and science you read about daily is gene sequencing. We have been able to sequence simple organisms since the 1970's, but the final frontier has been to sequence our own entire genome. As vast databases of genomes are maintained for analysis, they can be studied to understand the genetic component of virtually any disease. This ability to understand disease at a genetic level makes newly validated gene targets the subject of any number of therapeutic modalities. These emerging databases can also be studied for ones predicted reaction to a certain medication and can be used to identify the genetic risk for various diseases. Perhaps the information about your genome can even used to make a highly customized medicine specifically tailored to you.

Due to practical, logistical and cost issues, we have been limited to only sequencing a part of our total genome with something called exome sequencing. It targets just the most important areas which code for protein. Though very useful, I believe in the course of history exome sequencing will be viewed as little more than a footnote as it is gradually replaced with full genome sequencing. To appreciate whole genome sequencings promise, we can look at what current sequencing technology is already doing. Exome sequencing is being used today in various areas of research and more limited sequencing (1,000,000 bases only) fuels direct to consumer private genetic companies like 23 and Me . I highly recommend signing up on 23 and Me's website to view their sample sequences of the Mendel family. You can see first hand the type of information that you or your doctor can have access to. For example, you can see that Greg Mendel's risk for prostate cancer is elevated and has sensitivity to the drug Warfarin. Its especially interesting that 23 and Me is using the information of volunteers to build their own databases for statistical analysis for some indications. Companies that deal with whole genome sequencing are doing similar things and are building a treasure chest of knowledge. Multiply the promise seen in 23 and Me exponentially and use your imagination.

Up until recently, whole genome sequencing was horribly expensive. Before his death, Steve Jobs had his whole genome sequenced for $100,000 and probably took about 4 weeks to complete. The best part? $100,000 at the time was considered dirt cheap. A few years earlier in 2003, it cost $300,000,000. Before that, don't even ask. Today, the cost of sequencing a whole genome is around $4000. This figure might even be outdated by the time you stumble across this article. Sequencers are getting smaller, cheaper, faster and more accessible.

I remember buying a top of the line computer for $2000 in the late 1990's and it being too slow to run the new programs that came out a short time later. This rapid pace of progress exists with whole genome sequencing, only at a much quicker pace. There is a rule of thumb in computing called Moore's Law that says the number of transistors that can be placed inexpensively on an integrated circuit doubles approximately every two years. Technology that can keep up with this law is considered to be doing very well and can be used as a benchmark. Observe a comparison between Moore's Law and the cost of whole genome sequencing.

(Click to enlarge)

To be honest, much of everything I have covered this regarding whole genome sequencing has been covered pretty well. With Roche's (OTCQX:RHHBY) hostile takeover bid of sequencing giant Illumina (NASDAQ:ILMN), it has catapulted gene sequencing companies into the spot light.

While most of the attention is focused on the dropping cost, there are a number of pressing and obvious questions investors should have that don't yet have a clear answer. Hypothetically, lets imagine that I have my genome sequenced instead of going on vacation this summer. I would be sent electronically a whole slew of data on my genome, likely over the internet, that I could make neither heads or tails of. I could take the data to my doctor and he would probably shrug and look at me funny. I could maybe try and take the test to a Genomic Counselor, but I would probably get the same reaction. There just are not enough people that know how to interpret the results.

While many public companies such as Pacific Biosciences (NASDAQ:PACB), are focusing on making the actual sequencers, smaller privately held companies like DNANexus are focused on providing software and services that help the interpretation of a whole genome sequence. I see a rise in bioinformatics companies centered around the interpretation and data management solutions to be a huge growth industry that is well positioned to take advantage of whole genome sequencing. As I proposed earlier, I view the convergence of many disciplines for the benefit of healthcare to be the driving force behind its innovation. The founders of companies like DNANexus are likely to be just as good with programming and IT as they are with biology and medicine.

I also see the potential for companies catering to the outsourcing of whole genome sequencing services. Lets assume you are a major hospital or research lab. With the technology in such current state of flux, would you wish to invest a large amount of money in a technology that is improving at a break neck speed? With sequencers in the pipeline that can do the job cheaper, wouldn't you want to hold off until the current technology can sequence a Genome for $1000? Even with the arrival of these sequencers, large research projects will exceed the capabilities of an in house lab. Complete Genomics (NASDAQ:GNOM) is the industry leader in outsourcing whole genome services. I think the trend of hospitals and labs like the Mayo clinic selecting Complete Genomics to supplement their in house lab will become more common.

Now that I have hopefully captured your imagination with whole genome sequencing, my next series of articles will highlight some of the publicly traded companies that are well positioned to take advantage of this coming revolution.

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